日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Merlin immunoreactivity fails to predict neurofibromatosis type 2 mutations in human meningiomas.

Merlin 免疫反应性无法预测人类脑膜瘤中的 2 型神经纤维瘤病突变

Tollefsen Sofie Eline, Meta Rahmina, Solheim Ole, Mjønes Patricia, Vestrheim Ingfrid, Sjursen Wenche, Torp Sverre Helge

Tumour-associated macrophages in human meningiomas.

人类脑膜瘤中的肿瘤相关巨噬细胞

Meta Rahmina, Pettersen Henrik Sahlin, Tollefsen Sofie Eline, Ytterhus Borgny, Salvesen Øyvind Olav, Sjursen Wenche, Torp Sverre Helge

Comparison of the ABC and ACMG systems for variant classification

ABC系统与ACMG系统在变异分类中的比较

Houge, Gunnar; Bratland, Eirik; Aukrust, Ingvild; Tveten, Kristian; Žukauskaitė, Gabrielė; Sansovic, Ivona; Brea-Fernández, Alejandro J; Mayer, Karin; Paakkola, Teija; McKenna, Caoimhe; Wright, William; Markovic, Milica Keckarevic; Lildballe, Dorte L; Konecny, Michal; Smol, Thomas; Alhopuro, Pia; Gouttenoire, Estelle Arnaud; Obeid, Katharina; Todorova, Albena; Jankovic, Milena; Lubieniecka, Joanna M; Stojiljkovic, Maja; Buisine, Marie-Pierre; Haukanes, Bjørn Ivar; Lorans, Marie; Roomere, Hanno; Petit, François M; Haanpää, Maria K; Beneteau, Claire; Pérez, Belén; Plaseska-Karanfilska, Dijana; Rath, Matthias; Fuhrmann, Nico; Ferreira, Bibiana I; Stephanou, Coralea; Sjursen, Wenche; Maver, Aleš; Rouzier, Cécile; Chirita-Emandi, Adela; Gonçalves, João; Kuek, Wei Cheng David; Broly, Martin; Haer-Wigman, Lonneke; Thong, Meow-Keong; Tae, Sok-Kun; Hyblova, Michaela; den Dunnen, Johan T; Laner, Andreas

A 39 kb structural variant causing Lynch Syndrome detected by optical genome mapping and nanopore sequencing

通过光学基因组图谱和纳米孔测序检测到一种导致林奇综合征的39 kb结构变异。

Bjørnstad, Pål Marius; Aaløkken, Ragnhild; Åsheim, June; Sundaram, Arvind Y M; Felde, Caroline N; Østby, G Henriette; Dalland, Marianne; Sjursen, Wenche; Carrizosa, Christian; Vigeland, Magnus D; Sorte, Hanne S; Sheng, Ying; Ariansen, Sarah L; Grindedal, Eli Marie; Gilfillan, Gregor D

PMS2 mutation spectra in Norway and risk of cancer for carriers of pathogenic variants

挪威PMS2基因突变谱及致病变异携带者的癌症风险

Sjursen, Wenche; Hyldebrandt, Hanne K; Lavik, Liss Anne S; Haukanes, Bjørn Ivar; Ariansen, Sarah; Briskemyr, Siri; Sylvander, Anna E; Haavind, Marianne T; Olsen, Maren F; Røyset, Elin S; Vetti, Hildegunn; Stormorken, Astrid; Grindedal, Eli Marie

April, again

四月,又来了

Bjørnstad, Pål Marius; Aaløkken, Ragnhild; Åsheim, June; Sundaram, Arvind Y M; Felde, Caroline N; Østby, G Henriette; Dalland, Marianne; Sjursen, Wenche; Carrizosa, Christian; Vigeland, Magnus D; Sorte, Hanne S; Sheng, Ying; Ariansen, Sarah L; Grindedal, Eli Marie; Gilfillan, Gregor D; McNeill, Alisdair

MTHFR C677T and A1298C polymorphism's effect on risk of colorectal cancer in Lynch syndrome

MTHFR C677T 和 A1298C 多态性对林奇综合征患者结直肠癌风险的影响

Wiik, Mariann Unhjem; Negline, Mia; Beisvåg, Vidar; Clapham, Matthew; Holliday, Elizabeth; Dueñas, Nuria; Brunet, Joan; Pineda, Marta; Bonifaci, Nuria; Aretz, Stefan; Klinkhammer, Hannah; Spier, Isabel; Perne, Claudia; Mayr, Andreas; Valle, Laura; Lubinski, Jan; Sjursen, Wenche; Scott, Rodney J; Talseth-Palmer, Bente A

Characterization of POLE c.1373A > T p.(Tyr458Phe), causing high cancer risk

POLE c.1373A > T p.(Tyr458Phe)突变的特征分析表明,该突变会导致高致癌风险。

Rocque, Mariève J; Leipart, Vilde; Kumar Singh, Ashish; Mur, Pilar; Olsen, Maren F; Engebretsen, Lars F; Martin-Ramos, Edgar; Aligué, Rosa; Sætrom, Pål; Valle, Laura; Drabløs, Finn; Otterlei, Marit; Sjursen, Wenche

Detection of germline variants with pathogenic potential in 48 patients with familial colorectal cancer by using whole exome sequencing

利用全外显子组测序技术检测48例家族性结直肠癌患者中具有致病潜力的种系变异

Singh, Ashish Kumar; Talseth-Palmer, Bente; Xavier, Alexandre; Scott, Rodney J; Drabløs, Finn; Sjursen, Wenche

BRCA1 Norway: comparison of classification for BRCA1 germline variants detected in families with suspected hereditary breast and ovarian cancer between different laboratories

BRCA1 挪威:不同实验室对疑似遗传性乳腺癌和卵巢癌家族中检测到的 BRCA1 生殖系变异进行分类的比较

Hovland, Henrikke N; Al-Adhami, Rafal; Ariansen, Sarah Louise; Van Ghelue, Marijke; Sjursen, Wenche; Lima, Sigrid; Bolstad, Marte; Berger, Amund H; Høberg-Vetti, Hildegunn; Knappskog, Per; Haukanes, Bjørn Ivar; Aukrust, Ingvild; Ognedal, Elisabet